DisGeNET - a database of gene-disease associations

WWOX, WW domain containing oxidoreductase, 51741

N. diseases: 356; N. variants: 58

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs587777127

Entrez Id:	4094;51741
Gene Symbol:	MAF;WWOX

MAF;WWOX

CUI:	C3280452
Disease:

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12

0.800

GeneticVariation

UNIPROT

The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.

24456803

2014

dbSNP:

rs587777127

Entrez Id:	4094;51741
Gene Symbol:	MAF;WWOX

MAF;WWOX

CUI:	C3280452
Disease:

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12

0.800

GeneticVariation

UNIPROT

The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.

24369382

2014

dbSNP:

rs587777128

Entrez Id:	51741
Gene Symbol:	WWOX

WWOX

CUI:	C3280452
Disease:

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12

0.800

GeneticVariation

UNIPROT

The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.

24369382

2014

dbSNP:

rs587777128

Entrez Id:	51741
Gene Symbol:	WWOX

WWOX

CUI:	C3280452
Disease:

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12

0.800

GeneticVariation

UNIPROT

The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.

24456803

2014

dbSNP:

rs12716850

Entrez Id:	51741
Gene Symbol:	WWOX

WWOX

CUI:	C0016529
Disease:

Forced expiratory volume function

0.800

GeneticVariation

GWASCAT

Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.

23284291

2012

dbSNP:

rs12716850

Entrez Id:	51741
Gene Symbol:	WWOX

WWOX

CUI:	C0016529
Disease:

Forced expiratory volume function

0.800

GeneticVariation

GWASDB

Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.

23284291

2012

dbSNP:

rs8056446

Entrez Id:	51741
Gene Symbol:	WWOX

WWOX

CUI:	C0016529
Disease:

Forced expiratory volume function

0.800

GeneticVariation

GWASDB

Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.

23284291

2012

dbSNP:

rs8056446

Entrez Id:	51741
Gene Symbol:	WWOX

WWOX

CUI:	C0016529
Disease:

Forced expiratory volume function

0.800

GeneticVariation

GWASCAT

Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.

23284291

2012

dbSNP:

rs9923451

Entrez Id:	51741
Gene Symbol:	WWOX

WWOX

CUI:	C0028754
Disease:

Obesity

0.800

GeneticVariation

GWASDB

A genome-wide association study on obesity and obesity-related traits.

21552555

2011

dbSNP:

rs9923451

Entrez Id:	51741
Gene Symbol:	WWOX

WWOX

CUI:	C0028754
Disease:

Obesity

0.800

GeneticVariation

GWASCAT

A genome-wide association study on obesity and obesity-related traits.

21552555

2011

dbSNP:

rs587777127

Entrez Id:	4094;51741
Gene Symbol:	MAF;WWOX

MAF;WWOX

CUI:	C3280452
Disease:

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12

0.800

CausalMutation

CLINVAR

dbSNP:

rs587777128

Entrez Id:	51741
Gene Symbol:	WWOX

WWOX

CUI:	C3280452
Disease:

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12

0.800

CausalMutation

CLINVAR

dbSNP:

rs730880292

Entrez Id:	51741
Gene Symbol:	WWOX

WWOX

CUI:	C4015519
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28

0.800

GeneticVariation

UNIPROT

dbSNP:

rs730880292

Entrez Id:	51741
Gene Symbol:	WWOX

WWOX

CUI:	C4015519
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28

0.800

CausalMutation

CLINVAR

dbSNP:

rs1110544

Entrez Id:	51741
Gene Symbol:	WWOX

WWOX

CUI:	C0014772
Disease:

Red Blood Cell Count measurement

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs12449066

Entrez Id:	51741
Gene Symbol:	WWOX

WWOX

CUI:	C0042834
Disease:

Vital capacity

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs2345443

Entrez Id:	51741
Gene Symbol:	WWOX

WWOX

CUI:	C0042834
Disease:

Vital capacity

0.700

GeneticVariation

GWASCAT

New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

30804560

2019

dbSNP:

rs2345443

Entrez Id:	51741
Gene Symbol:	WWOX

WWOX

CUI:	C1518922
Disease:

peak expiratory flow (procedure)

0.700

GeneticVariation

GWASCAT

New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

30804560

2019

dbSNP:

rs2345443

Entrez Id:	51741
Gene Symbol:	WWOX

WWOX

CUI:	C0016529
Disease:

Forced expiratory volume function

0.700

GeneticVariation

GWASCAT

New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

30804560

2019

dbSNP:

rs2345443

Entrez Id:	51741
Gene Symbol:	WWOX

WWOX

CUI:	C0042834
Disease:

Vital capacity

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs2738696

Entrez Id:	51741
Gene Symbol:	WWOX

WWOX

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs4887991

Entrez Id:	51741
Gene Symbol:	WWOX

WWOX

CUI:	C0200638
Disease:

Eosinophil count procedure

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs67003685

Entrez Id:	51741
Gene Symbol:	WWOX

WWOX

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs71398138

Entrez Id:	4094;51741
Gene Symbol:	MAF;WWOX

MAF;WWOX

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs34592201

Entrez Id:	51741
Gene Symbol:	WWOX

WWOX

CUI:	C1837461
Disease:

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018